Treacher Collins Sendromu ve Üç Boyutlu Bilgisayarlı Tomografi: Olgu Sunumu

Treacher Collins sendromu özellikle yüzü ve kafayı etkileyen otozomal dominant geçişli genetik bir hastalıktır. Bu yazıda malar hipoplazi, dış kulak anomalileri, antimongoloid göz yerleşimi ve alt göz kapağında kirpiklerin kısmi yokluğu ile Treacher Collins sendromu tanısı konan 3 aylık bir kız çocuk olgusu tarafımızdan sunulmaktadır. Bu yazının amacı 3 boyutlu BT‘nin Treacher Collins sendromuna eşlik edebilen kraniyosinostozun saptanmasında yararlı bir tetkik olduğunun vurgulanmasıdır. Anahtar kelimeler: Treacher Collins Sendromu; Koanal Atrezi; Kraniyosinostoz.

Anahtar Kelimeler:

Treacher Collins Sendromu; Koanal Atrezi; Kraniyosinostoz.

Treacher Collins Syndrome and Three Dimension Computerized Tomography: Case Report

Treacher Collins Syndrome is an autosomal dominant genetic disorder and affects particularly the head and face. We present here the case of a 3-month-old girl who had malar hypoplasia, external ear abnormalities, antimongoloid slant of the eyes and lower lid with absent cilia. She was diagnosed with Treacher Collins syndrome. Hereby, the aim of this report, we emphasize the diagnostic value of three-dimensional CT for evaluating the craniosynostoses associated with Treacher Collins syndrome. Key words: Treacher Collins Syndrome; Choanal Atresia; Craniosynostosis.

Keywords:

Treacher Collins Syndrome; Choanal Atresia; Craniosynostosis.,

PDF

___

Posnick JC, Ruiz RL. Treacher Collins syndrome: Current evaluation, treatment, and future directions. Cleft Palate Craniofac J 2000;37:434.
Phelps PD, Poswillo D, Lloyd GAS. The ear deformities in mandibulofacial dysostosis. Clin Otolaryngol 1981;61:15-28.
Marszalek B, Wojcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet 2002;43:223-33.
Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, Albert A, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004;12:879-90.
Dixon MJ, Marres HA, Edwards SJ, Dixon J, Cremers CW. Treacher Collins syndrome: Correlation between clinical and genetic linkage studies. Clin Dysmorphol 1994;3:96-103.
Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 2000;16:315-22.
Singh DJ, Bartlett SP. Congenital mandibular hypoplasia: Analysis and classification. J Craniofac Surg 2005;16:291- 300.
Posnick JC. Treacher Collins syndrome: Perspectives in evaluation and treatment. J Oral Maxillofac Surg 1997;55:1120-33.
Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, et al. Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. Am J Med Genet A 2004;128A:173- 5.